A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792768



Internal ID18825323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21569823..21728953hg38UCSC Ensembl
Innerchr16:21581144..21740274hg19UCSC Ensembl
Innerchr16:21488645..21647775hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38159131
hg19159131
hg18159131
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892812
Supporting Variants
Samples
Known GenesIGSF6, METTL9, OTOA
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=31
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792768
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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